Abstract

The whole area of laboratory screening for thrombophilias in stroke patients is shrouded in uncertainty as to which (if any) patients to screen, what laboratory tests to order, how to interpret the results, and when to change therapy. To answer these questions, it is important to define the conditions and to consider their prevalence in the community and in patients with venous thromboembolism (VTE) and stroke; the likely attributable risk of stroke for each, if any, of the thrombophilias; the costs of the laboratory tests for thrombophilias; and the effectiveness of the results of testing in optimizing patient management and outcome. There is no internationally accepted definition of thrombophilia, but the term is commonly used to describe disorders of the hemostatic mechanisms that are likely to predispose to thrombosis.1 Thrombophilia may be inherited (deficiency of protein C, protein S, or antithrombin; activated protein C resistance resulting from the factor V Leiden mutation; the prothrombin gene [20210 G/A] mutation; and dysfibrinogenemia), acquired (lupus anticoagulant [LA] and anticardiolipin [ACL] antibodies), or mixed or unknown (high levels of coagulation factor VIII, IX, or XI; high levels of thrombin activatable fibrinolysis inhibitor). At least 1 thrombophilic disorder is present in ≈10% to 15% of the white Western European population,2 and as highlighted in the study by Jerrard-Dunne et al3 in this issue of Stroke , the distribution of blood concentrations of coagulation proteins, and thus diagnostic criteria and prevalence of thrombophilias, varies among other well-defined ethnic groups such …

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